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Cohesin embraces new phenotypes.

Abstract：

:A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Krantz ID

doi

10.1038/ng.3123

subject

Has Abstract

pub_date

2014-11-01 00:00:00

pages

1157-8

issue

11

eissn

1061-4036

issn

1546-1718

pii

ng.3123

journal_volume

46

pub_type

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